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A multigene deletion in the immunoglobulin heavy chain region in a highly atopic individual.

Abstract：

:Highly atopic individuals, with marked allergy, have extremely elevated total plasma IgE levels. To determine if atopy could be associated with structural alterations involving the IGHE gene of the immunoglobulin heavy chain constant region, the genomic DNA from five atopic individuals was examined. We describe here the identification of a deletion of approximately 120kb, including the IGHA1, IGHGP, IGHG2, AGHG4, and IGHE genes of the IGH constant region, in one atopic patient. This deletion arose de novo from a maternally derived chromosome. The deletion, although apparently not the primary cause of the atopic phenotype of this patient, could be indirectly responsible for the phenotype by exposing aberrant immunoglobulin-regulating elements within the paternally derived IGH constant region.

journal_name

Hum Genet

journal_title

Human genetics

authors

Walter MA,Chambers CA,Zimmerman B,Cox DW

doi

10.1007/BF00193590

subject

Has Abstract

pub_date

1990-10-01 00:00:00

pages

643-7

issue

6

eissn

0340-6717

issn

1432-1203

journal_volume

85

pub_type

杂志文章

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